Canonical Allele Identifier: CA9957563
Gene: CHRNA4 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.63349782G>C
GRCh37 chr20:g.61981134G>C
Revel Score:
ENST00000370258 0.289
ENST00000370263 (MANE Select) 0.289
ENST00000539366 0.289
gnomAD v2:
20:61981134 G / C
gnomAD v3:
20:63349782 G / C
gnomAD v4:
chr20-63349782-G-C
Joint Max Group AF 0.0005154 (SAS)
Genomes Max Group AF 0.00016885 (SAS)
Exomes Max Group AF 0.00051399 (SAS)
ClinVar RCV:
RCV001063044
RCV001565543
ClinVar Variation:
857384
dbSNP:
1044396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63349782G>C , CM000682.2:g.63349782G>C GRCh38
NC_000020.10:g.61981134G>C , CM000682.1:g.61981134G>C GRCh37
NC_000020.9:g.61451578G>C NCBI36
NG_011931.1:g.16562C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.1629C>G MANE Select ENSP00000359285.4:p.Ser543Arg
ENST00000370263.8:c.1629C>G ENSP00000359285.4:p.Ser543Arg
ENST00000463705.5:n.2277C>G
ENST00000467563.3:n.1699C>G
ENST00000498043.6:c.1653C>G
ENST00000615287.4:c.1416C>G ENSP00000483388.1:p.Ser472Arg
ENST00000627000.1:c.*1318C>G ENSP00000486914.1:n.*1318C>G
ENST00000630240.1:n.1350C>G
NM_000744.6:c.1629C>G NP_000735.1:p.Ser543Arg
NM_001256573.1:c.1101C>G NP_001243502.1:p.Ser367Arg
NR_046317.1:n.1885C>G
XM_011528524.1:c.1416C>G XP_011526826.1:p.Ser472Arg
XM_017027625.2:c.1101C>G XP_016883114.1:p.Ser367Arg
XM_024451822.1:c.1101C>G XP_024307590.1:p.Ser367Arg
NM_001256573.2:c.1101C>G NP_001243502.1:p.Ser367Arg
NR_046317.2:n.1838C>G
NM_000744.7:c.1629C>G MANE Select NP_000735.1:p.Ser543Arg
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